Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?

BACKGROUND: Recently our group has described a new autosomal dominant bleeding disorder characterized by very high plasma levels of soluble thrombomodulin (TM). The THBD c.1611C>A (p.Cys537X) mutation in heterozygous state was found in the propositus. This mutation leads to the synthesis of a tru...

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Vydáno v:PLoS One
Hlavní autoři: Jourdy, Yohann, Enjolras, Nathalie, Le Quellec, Sandra, Bordet, Jean Claude, Négrier, Claude, Vinciguerra, Christine, Dargaud, Yesim
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2017
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5690669/
https://ncbi.nlm.nih.gov/pubmed/29145514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0188213
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